A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890928



Internal ID19185324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:112252578..112295412hg38UCSC Ensembl
Outerchr6:112227963..112295412hg38UCSC Ensembl
Innerchr6:112573780..112616614hg19UCSC Ensembl
Outerchr6:112549164..112616614hg19UCSC Ensembl
Innerchr6:112680473..112723307hg18UCSC Ensembl
Outerchr6:112655857..112723307hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3867450
hg1967451
hg1867451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790263, essv25791941
Samples
Known GenesLAMA4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890928
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer